Amber and Ivan at a summer concertOriginally from the tropical island of Hawai’i, Amber Bobnar and her family moved to Massachusetts to be closer to Children’s Hospital Boston and Perkins School for the Blind where her son, Ivan, now attends preschool. Amber also writes about life raising a blind child with multiple disabilities at WonderBaby.org.

The media sometimes seems obsessed with miracle healings. They like to focus on the story about the family who found a non-traditional cure for their child’s rare disease or traveled around the world for an experimental (and ultimately successful) surgery.

This means that the rest of us often fall through the cracks. Sometimes there is no cure or miracle surgery, but that doesn’t mean our stories aren’t worth telling.

Ivan loves water and musicMy son, Ivan, was born in 2005 on the Big Island of Hawai’i. We knew right away something wasn’t right because his breathing was shallow and rapid and his oxygen saturation was dangerously low. Doctors suspected pneumonia or a bacterial infection, but couldn’t pinpoint the cause of Ivan’s breathing difficulties. After a week in the NICU we were sent home with no answers and little help.

We lived in a very rural area and didn’t have much access to medical or early intervention services. We knew something was wrong, but we didn’t know what. As Ivan matured, his breathing stabilized, but we noticed that he wasn’t tracking or focusing on anything. He responded to sounds, but not to any visual stimulation. He didn’t even seem to notice if the house lights were on or off.

We flew to Ohio to meet with doctors at the Cleveland Sight Center in 2006. They diagnosed Ivan with Leber’s Congenital Amaurosis (LCA), a rare genetic condition that can cause blindness from birth. They were sure of this diagnosis, but thought something else may be going on as well because Ivan’s muscle tone was so low and he was falling behind developmentally. They suggested we follow up with a pediatric neurologist. Unfortunately, we didn’t have access to a pediatric neurologist in Hawai’i.

When we got home we thought about what the doctors had told us. Our son may have “something else.” Ivan was a pudgy little eighteen-month-old baby who loved music and water. He was thrilled to splash in the pool or listen to bluegrass music for hours at a time. But he couldn’t crawl or stand and he seemed to have a really hard time using his hands. He had a few words, but they were difficult to understand by people who didn’t know him.

By 2007 we had decided we needed to find a place where Ivan could receive better care and we could finally track down some real answers… but where? Both my husband and I had attended college in Boston and we read a lot about both Children’s Hospital Boston as well as the services at the Perkins School for the Blind, so Massachusetts was our top pick.

Ivan’s diagnosis up until this point had seemed like a jigsaw puzzle with missing pieces. No matter now many times we moved those pieces around, nothing fit. The MRI showed definitively that Ivan had a disorder called Joubert Syndrome (JS), which is generally characterized by an underdeveloped cerebellar vermis. This is why at three years old he still couldn’t walk or feed himself.

Dr. Cox ran tests for known malformations in genes that cause LCA and found the culprit in the CEP290 gene – a genetic mutation that is often related to both LCA and JS. Suddenly the pieces were starting to fit!

The EEGs found seizures in the language center of Ivan’s brain, leading to a third diagnosis of Landau-Kleffner Syndrome (LKS), a language processing disorder. This explained why Ivan had started losing the little vocabulary he had and was immediately put on anti-seizure medications.

If this were a movie, the next scene would show us finding the miracle cure that brings Ivan speech and vision. Unfortunately, there are no cures for these disorders. But knowledge really is power. Armed with real answers about our son’s situation rather than vague notions, we can now develop a long-lasting treatment plan for him. We are medicating his seizures and his speech therapist is better equipped to tackle his language disorder; we know how to approach his physical therapy and he’s making great progress; and possibly most importantly, knowing his genetic mutation helps us understand his prognosis and we can prepare now for the kidney issues he will most likely face in the future.

Ivan and Amber enjoying the open seasHaving access to diagnostic testing and a group of doctors who can communicate with each other allowed us to create a plan for Ivan. Our goal is not a miracle cure (even though that would be nice) – we’re trying to give Ivan as happy and fulfilling a life as possible. The information we’ve gathered from our doctors at Children’s makes that possible.

Between the medical care he receives at Children’s and the education he receives at Perkins, Ivan is in good hands. It’s amazing to us that despite all his difficulties Ivan is still happy and progressing (and he still loves water and music). All we can do as a family is face our challenges with as much optimism and grace as we can… and keep moving forward.